cleft palate/craniofacial anomalies and genetic syndromes Flashcards
craniofacial anomalies
abnormalities of structures of the head and face. Congenital and in many cases genetic.
cleft lip
opening in the lip, usually the upper lip. Lower lip clefting is very rare. clefts of the lips alone are also rare. they are usually associated with cleft of the palate. Often more unilateral than bilateral. It is present at time of birth.
palatal clefts
various congenital malformations resulting in an opening in the hard palate, the soft palate, or both. due to disruptions of the embryonic growth processess, resulting in a failure to fuse structures that are normally fused.
etiologies of cleft lip and palate
genetic
environmental
mechanical
classifications of clefts
cleft lip (complete, incomplete–bilateral, unilateral)
cleft of alveolar process (unilateral or bilateral, median or submucous)
cleft of pre-palate (combination of previous types with or without pre-palate protrusion or rotation)
cleft of the palate (soft palate, hard palate, or submucous)
cleft of pre-palate and palate (any combo of clefts of the pre-palate and palate)
facial clefts other than pre palate and palate (rare forms)
microforms
minimal expressions of clefts, including a hairling indention of lip or just a notch on the lip
submucous clefts (occult cleft palate)
the surgace tissues of the soft or hard palate fuse but the underlying muscle or bone tissues do not.
Hearing lojss
children with clefts are prone to middle ear infections and hearing loss. Most common cause is otitis media. Eustacian tube disfunction is also common.
speech sound disorders with clefts
-increased difficulty with unvoiced sounds than voiced sounds, pressure consonants, audible or inaudible nasal air emission and distortion of vowels
-specific dif with sibilants (s, z) as well as stops and fricatives
-compensatory errors and substitutions to compensate for inadequate closure of velopharynteal mechanism
language disorders in cleft lip
may not be as sig as artic disorders. Normal language in many cases.
-initially delayed language development with improvment as child grows
-more significant language disorders if cleft is due to genetic componant
-relatively normal receptive but delays in expressive language
Laryngeal and phonotory disorders
-vocal nodules
-hypertrophy and edema of the vocal folds
-hoarseness, strangled voice
-resonance disorders common
assessment for cleft
case hx
parent interview
assessment of velopharyngeal function (interdisciplinary team approach)
videofluoroscopic assessment
oral manometer
nasometer-computer based system that measures nasalance (ratio between oral
and nasal sound pressures)
assess speech sound disorders
assess language disorders
assess phonotory disorders
resonance disorders
Treatment of children with clefts (surgical)
Team effort. decisions for surgery involve rule of 10s (waiting until the child is 10 lbs, 10 weeks, hemoglobin of 10)
primary surgery: initial surgery in which the clefts are closed
secondary surgery: improve appearance and functioning
lip surgery: done to close clefts of the lip. Typically done when the baby is 3 years old or weighs 10 lbs
palatal surgery: done to close clefts of the palate. typically done when baby is 9-24 mo
v-y retroposition method:
treatment of speech sound disorders in clefts
focus on increasing intelligility.
-more visable sounds taught before less visable sounds
-stops and fricatives are taught before other sound classes
-training k and g may be inappropriate if kthe childs velopharyngeal functioning is inadequate
-if stimulable, fricatives, affricated or both may be trained. In any case they may be trained after stops are mastered
-frequent auditory and visual cueing helps
-Minimal pairs approach can be helpful
-non speech oral motor exercises are not helpful
-EPG gives immediate feedback on placement of sounds
Treatment of resonance disorders in cleft
hypernasality due to VPI should not be treated until there is a surgical or prosthetic efficacy to improve the physiological functioning and the child is capable of closure. They may also need prosthetic intervention.
-increased vocal loudness, lowered pitch, and increased oral opening. biofeedback can be hlepful